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Details of RareLED ID 2037

Primary information
ID	2037
Disorder	Galactosialidosis
Inheritance	Autosomal recessive
Organ Affected	Nervous System,Bones,Skin,Heart,Ear
Onset	Early Adult (both)
Genotype-Phenotype Correlation	p.Tyr413Cys mutation underlies the severe phenotype. The p.Tyr267Asn was detected in a variant form of an early infantile patient without neurological involvement.p.Gln67Arg was first reported in a juvenile patient, in combination with a mild mutation. Coarse facies, hepatosplenomegaly, growth retardation and an unusual renal symptomatology were described in a 9-year-old patient who was compound heterozygous for the p.Gly103Val and p.Arg442Trp mutations.p.Tyr413Cys, in the adult patient it was detected in combination with the c.746?+?3A > G change, reported as a mild mutation in homozygotes adult patients
Refrences	23915561